Double heterozygotes for non-Caucasian families with mutations in BRCA-1 and BRCA-2 genes

Breast J. 2006 May-Jun;12(3):216-20. doi: 10.1111/j.1075-122X.2006.00245.x.

Abstract

The recent discovery of the BRCA-1 and BRCA-2 genes as contributing factors to hereditary breast cancer has significantly improved our understanding of familial breast cancer. Deleterious mutations in both BRCA-1 and BRCA-2 in an individual patient is exceedingly rare, with few case reports in the literature, particularly among non-Caucasian, non-Jewish families. We describe here two cases of deleterious mutations in both genes in a cohort of Korean women with early onset breast cancer.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Breast Neoplasms / genetics*
  • DNA Mutational Analysis
  • DNA, Neoplasm / analysis*
  • Female
  • Genes, BRCA1*
  • Genes, BRCA2*
  • Genetic Carrier Screening
  • Genetic Predisposition to Disease
  • Humans
  • Korea
  • Mutation*

Substances

  • DNA, Neoplasm